OBO ID: DOID:0060762
Term Name: lethal restrictive dermopathy Search Ontology:
Synonyms:
  • hyperkeratosis-contracture syndrome
  • tight skin contracture syndrome
Definition: A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. (2)
References:
Ontology: Human Disease   (DOID:0060762)
OTHER lethal restrictive dermopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMNA Restrictive dermopathy, lethal 275210
ZMPSTE24 Restrictive dermopathy, lethal 275210
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None